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Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome

British Journal of Dermatology
2024-07-16 | Journal article
Contributors: Paul Kuentz; Camille Engel; Mathieu Laeng; Martin Chevarin; Yannis Duffourd; Jéhanne Martel; Juliette Piard; Fanny Morice-Picard; Helene Aubert; Didier Bessis et al.
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BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

European Journal of Human Genetics
2023-06-21 | Journal article
Contributors: Camille Engel; Stéphanie Valence; Geoffroy Delplancq; Reza Maroofian; Andrea Accogli; Emanuele Agolini; Fowzan S. Alkuraya; Valentina Baglioni; Irene Bagnasco; Mathilde Becmeur-Lefebvre et al.
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